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Items: 1 to 50 of 154

1.

MRI-guided definition of cerebrospinal fluid distribution around cranial and sacral nerves: implications for brain tumors and craniospinal irradiation.

Wood AM, Lequin MH, Philippens MM, Seravalli E, Plasschaert SL, van den Heuvel-Eibrink MM, Janssens GO.

Acta Oncol. 2019 Sep 17:1-5. doi: 10.1080/0284186X.2019.1667023. [Epub ahead of print]

PMID:
31526171
2.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
3.

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol.

den Ottelander BK, de Goederen R, van Veelen MC, van de Beeten SDC, Lequin MH, Dremmen MHG, Loudon SE, Telleman MAJ, de Gier HHW, Wolvius EB, Tjoa STH, Versnel SL, Joosten KFM, Mathijssen IMJ.

J Neurosurg Pediatr. 2019 Jul 19:1-8. doi: 10.3171/2019.5.PEDS1969. [Epub ahead of print]

PMID:
31323628
4.

Reply to Letter.

Groenendaal F, Nikkels PGJ, Lequin MH, de Sévaux JLH.

Neonatology. 2019;115(3):277. doi: 10.1159/000495914. Epub 2019 Feb 13. No abstract available.

5.

Added value of arterial spin labeling magnetic resonance imaging in pediatric neuroradiology: pitfalls and applications.

Keil VC, Hartkamp NS, Connolly DJA, Morana G, Dremmen MHG, Mutsaerts HJMM, Lequin MH.

Pediatr Radiol. 2019 Feb;49(2):245-253. doi: 10.1007/s00247-018-4269-7. Epub 2018 Nov 17. Review.

PMID:
30448868
6.

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS.

Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31.

PMID:
30391508
7.

The Value of Autopsy in Neonates in the 21st Century.

de Sévaux JLH, Nikkels PGJ, Lequin MH, Groenendaal F.

Neonatology. 2019;115(1):89-93. doi: 10.1159/000493003. Epub 2018 Oct 23.

8.

Electroencephalography and brain magnetic resonance imaging in asphyxia comparing cooled and non-cooled infants.

De Wispelaere LA, Ouwehand S, Olsthoorn M, Govaert P, Smit LS, de Jonge RC, Lequin MH, Reiss IK, Dudink J.

Eur J Paediatr Neurol. 2019 Jan;23(1):181-190. doi: 10.1016/j.ejpn.2018.09.001. Epub 2018 Sep 12.

PMID:
30279083
9.

MRI Changes in the Thalamus and Basal Ganglia of Full-Term Neonates with Perinatal Asphyxia.

Imai K, de Vries LS, Alderliesten T, Wagenaar N, van der Aa NE, Lequin MH, Benders MJNL, van Haastert IC, Groenendaal F.

Neonatology. 2018;114(3):253-260. doi: 10.1159/000489159. Epub 2018 Jun 29.

10.

Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.

Ebbink BJ, Poelman E, Aarsen FK, Plug I, Régal L, Muentjes C, van der Beek NAME, Lequin MH, van der Ploeg AT, van den Hout JMP.

Dev Med Child Neurol. 2018 Jun;60(6):579-586. doi: 10.1111/dmcn.13740. Epub 2018 Mar 24.

11.

A Novel Magnetic Resonance Imaging Score Predicts Neurodevelopmental Outcome After Perinatal Asphyxia and Therapeutic Hypothermia.

Weeke LC, Groenendaal F, Mudigonda K, Blennow M, Lequin MH, Meiners LC, van Haastert IC, Benders MJ, Hallberg B, de Vries LS.

J Pediatr. 2018 Jan;192:33-40.e2. doi: 10.1016/j.jpeds.2017.09.043.

12.

Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study.

Mous SE, Overwater IE, Vidal Gato R, Duvekot J, Ten Hoopen LW, Lequin MH, de Wit MY, Dieleman GC.

Eur Child Adolesc Psychiatry. 2018 Jun;27(6):753-765. doi: 10.1007/s00787-017-1066-z. Epub 2017 Oct 23.

13.

Safety of Contrast Material Use in Children.

Soares BP, Lequin MH, Huisman TAGM.

Magn Reson Imaging Clin N Am. 2017 Nov;25(4):779-785. doi: 10.1016/j.mric.2017.06.009. Epub 2017 Sep 8. Review.

PMID:
28964467
14.

Very Long-term Sequelae After Nonradical Surgery Combined With Brachytherapy in an Infant With a Chemotherapy-resistant Rhabdomyosarcoma of the Tongue.

van Rijswijk PM, van den Heuvel-Eibrink MM, van den Akker ELT, Slagter C, Lequin MH, Aarsen FK, van Atteveld JE, Wagner A, van Grotel M.

J Pediatr Hematol Oncol. 2017 Oct;39(7):566-569. doi: 10.1097/MPH.0000000000000935.

PMID:
28859029
15.

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug.

16.

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017 Aug 1;13(8):e1006923.

17.

Insight into the Pathophysiologic Mechanisms behind Cognitive Dysfunction in Trigonocephaly.

van der Vlugt JJ, van der Meulen JJ, van den Braak RR, Vermeij-Keers C, Horstman EG, Hovius SE, Verhulst FC, Wierdsma AI, Lequin MH, Okkerse JM.

Plast Reconstr Surg. 2017 Apr;139(4):954e-964e. doi: 10.1097/PRS.0000000000003179.

PMID:
28350677
18.

Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

Overwater IE, Swenker R, van der Ende EL, Hanemaayer KB, Hoogeveen-Westerveld M, van Eeghen AM, Lequin MH, van den Ouweland AM, Moll HA, Nellist M, de Wit MY.

Eur J Hum Genet. 2016 Dec;24(12):1688-1695. doi: 10.1038/ejhg.2016.85. Epub 2016 Jul 13.

19.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

20.

A New Ultrasound Marker for Bedside Monitoring of Preterm Brain Growth.

Roelants JA, Koning IV, Raets MM, Willemsen SP, Lequin MH, Steegers-Theunissen RP, Reiss IK, Vermeulen MJ, Govaert P, Dudink J.

AJNR Am J Neuroradiol. 2016 Aug;37(8):1516-22. doi: 10.3174/ajnr.A4731. Epub 2016 Mar 17.

21.

Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge.

Ebbink BJ, Poelman E, Plug I, Lequin MH, van Doorn PA, Aarsen FK, van der Ploeg AT, van den Hout JM.

Neurology. 2016 Mar 29;86(13):1260-1. doi: 10.1212/WNL.0000000000002523. Epub 2016 Mar 4. No abstract available.

PMID:
26944269
22.

Abnormal transcranial Doppler cerebral blood flow velocity and blood pressure profiles in children with syndromic craniosynostosis and papilledema.

Spruijt B, Tasker RC, Driessen C, Lequin MH, van Veelen ML, Mathijssen IM, Joosten KF.

J Craniomaxillofac Surg. 2016 Apr;44(4):465-70. doi: 10.1016/j.jcms.2016.01.001. Epub 2016 Jan 11.

PMID:
26857754
23.

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Mancini GM, Schot R, de Wit MC, de Coo RF, Oostenbrink R, Bindels-de Heus K, Berger LP, Lequin MH, de Vries FA, Wilke M, van Slegtenhorst MA.

Neurology. 2016 Mar 1;86(9):877-8. doi: 10.1212/WNL.0000000000002422. Epub 2016 Feb 3. No abstract available.

PMID:
26843564
24.

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

Ebbink BJ, Brands MM, van den Hout JM, Lequin MH, Coebergh van den Braak RR, van de Weitgraven RL, Plug I, Aarsen FK, van der Ploeg AT.

J Inherit Metab Dis. 2016 Mar;39(2):285-92. doi: 10.1007/s10545-015-9895-8. Epub 2015 Oct 8.

25.

Aggravated bone density decline following symptomatic osteonecrosis in children with acute lymphoblastic leukemia.

den Hoed MA, Pluijm SM, te Winkel ML, de Groot-Kruseman HA, Fiocco M, Hoogerbrugge P, Leeuw JA, Bruin MC, van der Sluis IM, Bresters D, Lequin MH, Roos JC, Veerman AJ, Pieters R, van den Heuvel-Eibrink MM.

Haematologica. 2015 Dec;100(12):1564-70. doi: 10.3324/haematol.2015.125583. Epub 2015 Sep 24.

26.

First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?

Spruijt B, Rijken BF, den Ottelander BK, Joosten KF, Lequin MH, Loudon SE, van Veelen ML, Mathijssen IM.

Plast Reconstr Surg. 2016 Jan;137(1):112e-121e. doi: 10.1097/PRS.0000000000001894.

PMID:
26368328
27.

Magnetic resonance imaging in children: common problems and possible solutions for lung and airways imaging.

Ciet P, Tiddens HA, Wielopolski PA, Wild JM, Lee EY, Morana G, Lequin MH.

Pediatr Radiol. 2015 Dec;45(13):1901-15. doi: 10.1007/s00247-015-3420-y. Epub 2015 Sep 5. Review.

28.

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA; WGS500 Consortium, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO.

Am J Hum Genet. 2015 Sep 3;97(3):378-88. doi: 10.1016/j.ajhg.2015.07.007.

29.

The formation of the foramen magnum and its role in developing ventriculomegaly and Chiari I malformation in children with craniosynostosis syndromes.

Rijken BF, Lequin MH, Van Veelen ML, de Rooi J, Mathijssen IM.

J Craniomaxillofac Surg. 2015 Sep;43(7):1042-8. doi: 10.1016/j.jcms.2015.04.025. Epub 2015 May 8.

PMID:
26051848
30.

The role of the posterior fossa in developing Chiari I malformation in children with craniosynostosis syndromes.

Rijken BF, Lequin MH, van der Lijn F, van Veelen-Vincent ML, de Rooi J, Hoogendam YY, Niessen WJ, Mathijssen IM.

J Craniomaxillofac Surg. 2015 Jul;43(6):813-9. doi: 10.1016/j.jcms.2015.04.001. Epub 2015 Apr 14.

PMID:
25979575
31.

Diffusion Tensor Imaging and Fiber Tractography in Children with Craniosynostosis Syndromes.

Rijken BF, Leemans A, Lucas Y, van Montfort K, Mathijssen IM, Lequin MH.

AJNR Am J Neuroradiol. 2015 Aug;36(8):1558-64. doi: 10.3174/ajnr.A4301. Epub 2015 May 7.

32.

The occipitofrontal circumference: reliable prediction of the intracranial volume in children with syndromic and complex craniosynostosis.

Rijken BF, den Ottelander BK, van Veelen ML, Lequin MH, Mathijssen IM.

Neurosurg Focus. 2015 May;38(5):E9. doi: 10.3171/2015.2.FOCUS14846.

PMID:
25929971
33.

Data quality in diffusion tensor imaging studies of the preterm brain: a systematic review.

Pieterman K, Plaisier A, Govaert P, Leemans A, Lequin MH, Dudink J.

Pediatr Radiol. 2015 Aug;45(9):1372-81. doi: 10.1007/s00247-015-3307-y. Epub 2015 Mar 29. Review.

34.

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM.

Genet Med. 2015 Nov;17(11):843-53. doi: 10.1038/gim.2014.210. Epub 2015 Feb 26. Review.

PMID:
25719457
35.

Serial cranial ultrasonography or early MRI for detecting preterm brain injury?

Plaisier A, Raets MM, Ecury-Goossen GM, Govaert P, Feijen-Roon M, Reiss IK, Smit LS, Lequin MH, Dudink J.

Arch Dis Child Fetal Neonatal Ed. 2015 Jul;100(4):F293-300. doi: 10.1136/archdischild-2014-306129. Epub 2015 Jan 30.

PMID:
25637006
36.

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Nellist M, Schot R, Hoogeveen-Westerveld M, Neuteboom RF, van der Louw EJ, Lequin MH, Bindels-de Heus K, Sibbles BJ, de Coo R, Brooks A, Mancini GM.

Mol Genet Metab. 2015 Mar;114(3):467-73. doi: 10.1016/j.ymgme.2014.11.018. Epub 2014 Dec 5.

PMID:
25523067
37.

Atypical presentation of a newborn with Apert syndrome.

Spruijt B, Rijken BF, Joosten KF, Bredero-Boelhouwer HH, Pullens B, Lequin MH, Wolvius EB, van Veelen-Vincent ML, Mathijssen IM.

Childs Nerv Syst. 2015 Mar;31(3):481-6. doi: 10.1007/s00381-014-2601-6. Epub 2014 Nov 30.

PMID:
25433548
38.

Advanced pediatric cardiac imaging.

Nievelstein RA, Lequin MH.

Pediatr Radiol. 2015 Jan;45(1):4. doi: 10.1007/s00247-014-3056-3. Epub 2014 Aug 30. No abstract available.

PMID:
25172005
39.

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, Verheijen FW, Galjart N, Morris-Rosendahl DJ, Mancini GM.

Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19.

PMID:
24842779
40.

Developmental venous anomaly in the newborn brain.

Horsch S, Govaert P, Cowan FM, Benders MJ, Groenendaal F, Lequin MH, Saliou G, de Vries LS.

Neuroradiology. 2014 Jul;56(7):579-88. doi: 10.1007/s00234-014-1367-6. Epub 2014 Apr 23.

PMID:
24756165
41.

Long-term outcome in children with low grade tectal tumours and obstructive hydrocephalus.

Aarsen FK, Arts WF, Van Veelen-Vincent ML, Lequin MH, Catsman-Berrevoets CE.

Eur J Paediatr Neurol. 2014 Jul;18(4):469-74. doi: 10.1016/j.ejpn.2014.03.002. Epub 2014 Mar 12.

PMID:
24657012
42.

Choice of diffusion tensor estimation approach affects fiber tractography of the fornix in preterm brain.

Plaisier A, Pieterman K, Lequin MH, Govaert P, Heemskerk AM, Reiss IK, Krestin GP, Leemans A, Dudink J.

AJNR Am J Neuroradiol. 2014 Jun;35(6):1219-25. doi: 10.3174/ajnr.A3830. Epub 2014 Jan 9.

43.

Foramen magnum size and involvement of its intraoccipital synchondroses in Crouzon syndrome.

Rijken BF, Lequin MH, de Rooi JJ, van Veelen ML, Mathijssen IM.

Plast Reconstr Surg. 2013 Dec;132(6):993e-1000e. doi: 10.1097/PRS.0b013e3182a8077e.

PMID:
24281646
44.

Brain injury associated with neonatal extracorporeal membrane oxygenation in the Netherlands: a nationwide evaluation spanning two decades.

Raets MM, Dudink J, Ijsselstijn H, van Heijst AF, Lequin MH, Houmes RJ, Wildschut ED, Reiss IK, Govaert P, Tibboel D.

Pediatr Crit Care Med. 2013 Nov;14(9):884-92. doi: 10.1097/PCC.0b013e3182a555ac.

PMID:
24121484
45.

Serial cranial US for detection of cerebral sinovenous thrombosis in preterm infants.

Raets MM, Sol JJ, Govaert P, Lequin MH, Reiss IK, Kroon AA, Appel IM, Dudink J.

Radiology. 2013 Dec;269(3):879-86. doi: 10.1148/radiol.13130401. Epub 2013 Oct 28.

PMID:
23985276
46.

Boston type craniosynostosis: report of a second mutation in MSX2.

Florisson JM, Verkerk AJ, Huigh D, Hoogeboom AJ, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IM, van der Spek PJ.

Am J Med Genet A. 2013 Oct;161A(10):2626-33. doi: 10.1002/ajmg.a.36126. Epub 2013 Aug 15.

PMID:
23949913
47.

Optimal timing of cerebral MRI in preterm infants to predict long-term neurodevelopmental outcome: a systematic review.

Plaisier A, Govaert P, Lequin MH, Dudink J.

AJNR Am J Neuroradiol. 2014 May;35(5):841-7. doi: 10.3174/ajnr.A3513. Epub 2013 May 2. Review.

48.

A de novo GLI3 mutation in a patient with acrocallosal syndrome.

Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW.

Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30.

PMID:
23633388
49.

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Meuwissen ME, Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MF, Dalinghaus M, de Coo R, van Bever Y, Winkelman BH, Mancini GM.

Am J Med Genet A. 2013 Jun;161A(6):1376-80. doi: 10.1002/ajmg.a.35858. Epub 2013 Apr 23.

PMID:
23613326
50.

Spirometer-controlled cine magnetic resonance imaging used to diagnose tracheobronchomalacia in paediatric patients.

Ciet P, Wielopolski P, Manniesing R, Lever S, de Bruijne M, Morana G, Muzzio PC, Lequin MH, Tiddens HA.

Eur Respir J. 2014 Jan;43(1):115-24. doi: 10.1183/09031936.00104512. Epub 2013 Apr 18.

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